Austin’s Superhero Story

Austin is a 5 year old superhero from Alberta. His family shares that “he has an amazing smile that lights up the room and he flashes it every time he hears a familiar voice.”

A Message from Austin’s Family:

Austin was born in November 2014 without complications. He was extremely fussy but was absolutely perfect. We struggled with feeding and he would only sleep if he was being held or walked. We were told by others with kids that babies were just fussy. But Austin was different. We would trade off sleep every 2 hours so that one could rest while the other one walked Austin around the house.

When Austin was 3 months old we had weekly visits to our pediatrician as he was not putting on weight and was still not a good eater. We also started therapy as Austin would only turn his head to 1 side and was low tone. Around 6 months of age, our therapist mentioned the possibility that he was blind. We were referred to a neurologist and they ran several tests on Austin. We received confirmation one month later that he had optic nerve atrophy and epileptic spikes on an EEG. We were thrust into a world we never expected. We had appointments several times a week to try to figure out what was going on. Our original genetics test came back with no indicators. Meanwhile, Austin’s seizures started to increase and get worse. He was put on medications to try to control them, but nothing seemed to slow them down. We spoke with the neurologist about running an 191 gene epilepsy panel which included KIF1A. We received the KIF1A diagnosis in November of 2016 when Austin was 2 years old.

Austin is unable to walk, talk, sit and is completely blind. He suffers from epilepsy and has hypotonia. He is also 100% g-tube fed as he stopped eating in July 2019. We have only heard Austin laugh twice in his life, and we were so overcome with emotion. However, he has an amazing smile that lights up the room and he flashes it every time he hears a familiar voice.

We are unsure what treatment would look like for Austin, but any improvement in his quality of life would be welcome. Even just to hear him laugh again would be well worth it.